ABCD3

ATP-binding cassette, sub-family D (ALD), member 3, also known as ABCD3, is a human gene.cite web | title = Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5825| accessdate = ]

PBB_Summary
section_title =
summary_text = The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders.cite web | title = Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5825| accessdate = ]

ee also

* ATP-binding cassette transporter

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Gärtner J, Valle D |title=The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis. |journal=Semin. Cell Biol. |volume=4 |issue= 1 |pages= 45–52 |year= 1993 |pmid= 8453064 |doi=
*cite journal | author=Gärtner J, Obie C, Moser H, Valle D |title=A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1). |journal=Hum. Mol. Genet. |volume=1 |issue= 8 |pages= 654 |year= 1993 |pmid= 1301179 |doi=
*cite journal | author=Gärtner J, Moser H, Valle D |title=Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. |journal=Nat. Genet. |volume=1 |issue= 1 |pages= 16–23 |year= 1993 |pmid= 1301993 |doi= 10.1038/ng0492-16
*cite journal | author=Kamijo K, Kamijo T, Ueno I, "et al." |title=Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters. |journal=Biochim. Biophys. Acta |volume=1129 |issue= 3 |pages= 323–7 |year= 1992 |pmid= 1536884 |doi=
*cite journal | author=Gärtner J, Kearns W, Rosenberg C, "et al." |title=Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3. |journal=Genomics |volume=15 |issue= 2 |pages= 412–4 |year= 1993 |pmid= 8449508 |doi= 10.1006/geno.1993.1076
*cite journal | author=Shimozawa N, Suzuki Y, Tomatsu S, "et al." |title=Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients. |journal=Pediatr. Res. |volume=39 |issue= 5 |pages= 812–5 |year= 1996 |pmid= 8726233 |doi=
*cite journal | author=Kobayashi T, Shinnoh N, Kondo A, Yamada T |title=Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. |journal=Biochem. Biophys. Res. Commun. |volume=232 |issue= 3 |pages= 631–6 |year= 1997 |pmid= 9126326 |doi= 10.1006/bbrc.1997.6340
*cite journal | author=Paton BC, Heron SE, Nelson PV, "et al." |title=Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome. |journal=Am. J. Hum. Genet. |volume=60 |issue= 6 |pages= 1535–9 |year= 1997 |pmid= 9199576 |doi=
*cite journal | author=Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D |title=Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1). |journal=Genomics |volume=48 |issue= 2 |pages= 203–8 |year= 1998 |pmid= 9521874 |doi= 10.1006/geno.1997.5177
*cite journal | author=Collins CS, Gould SJ |title=Identification of a common PEX1 mutation in Zellweger syndrome. |journal=Hum. Mutat. |volume=14 |issue= 1 |pages= 45–53 |year= 1999 |pmid= 10447258 |doi= 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J |doilabel=10.1002/(SICI)1098-1004(1999)14:145::AID-HUMU63.0.CO;2-J
*cite journal | author=Liu LX, Janvier K, Berteaux-Lecellier V, "et al." |title=Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. |journal=J. Biol. Chem. |volume=274 |issue= 46 |pages= 32738–43 |year= 2000 |pmid= 10551832 |doi=
*cite journal | author=Sacksteder KA, Jones JM, South ST, "et al." |title=PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. |journal=J. Cell Biol. |volume=148 |issue= 5 |pages= 931–44 |year= 2000 |pmid= 10704444 |doi=
*cite journal | author=Gloeckner CJ, Mayerhofer PU, Landgraf P, "et al." |title=Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. |journal=Biochem. Biophys. Res. Commun. |volume=271 |issue= 1 |pages= 144–50 |year= 2000 |pmid= 10777694 |doi= 10.1006/bbrc.2000.2572
*cite journal | author=Roerig P, Mayerhofer P, Holzinger A, Gärtner J |title=Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. |journal=FEBS Lett. |volume=492 |issue= 1-2 |pages= 66–72 |year= 2001 |pmid= 11248239 |doi=
*cite journal | author=Biermanns M, Gärtner J |title=Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes. |journal=Biochem. Biophys. Res. Commun. |volume=285 |issue= 3 |pages= 649–55 |year= 2001 |pmid= 11453642 |doi= 10.1006/bbrc.2001.5220
*cite journal | author=Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC |title=Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. |journal=Biochem. Biophys. Res. Commun. |volume=291 |issue= 5 |pages= 1180–6 |year= 2002 |pmid= 11883941 |doi= 10.1006/bbrc.2002.6568
*cite journal | author=Tanaka AR, Tanabe K, Morita M, "et al." |title=ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1). |journal=J. Biol. Chem. |volume=277 |issue= 42 |pages= 40142–7 |year= 2002 |pmid= 12176987 |doi= 10.1074/jbc.M205079200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209

External links

*
* [http://www.gdb.org/gdb-bin/genera/genera/hgd/GenomicSegment?!action=query&displayName=abcd3 ABCD3 at The GDB Human Genome Database]

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